NEW YORK – Personalized phone discussions about genetic risk assessment increased the number of breast and ovarian cancer patients who got genetic testing or discussed their risk with a genetic counselor, a study from Rutgers Cancer Institute showed.
Researchers involved in the Rutgers study also tried and succeeded in involving a representative sample of Hispanic and rural patients, who are traditionally left out of research, to ensure they explored the efficacy of healthcare communication strategies across a diverse population.
The Rutgers study explored how two outreach methods — a tailored phone-based navigation and mailed targeted print materials — impacted genetic testing and counseling rates among breast and ovarian cancer patients. The uptake of these genetic risk assessment interventions among patients who researchers reached out to were then compared to a control group who received no outreach. The results, published in the Journal of Clinical Oncology in February, showed that the more intensive, more personalized phone interventions led to more women getting genetic testing or counseling, or both, to gauge their cancer risk within six months compared to when patients only received printed materials, 18.7 percent versus 3 percent, respectively. In the control group, 2.5 percent got testing or counseling.
Anita Kinney, lead author of the study and director of the Center for Cancer Health Equity at the Rutgers School of Public Health, estimated that only about 30 percent of breast and ovarian cancer patients are referred for cancer risk genetic testing and less than 10 percent actually get the testing done.
"Typically, the best strategy for identifying families who are at increased risk for hereditary cancer is to start the testing process with the affected patient who has had a cancer diagnosis," Kinney said. "If a pathogenic variant can be found, you're much more likely to find it in the affected patient, and then, family members or biological relatives can be offered testing and opportunities for enhanced screening and prevention."
Inherited mutations in BRCA1/2, PALB2, or CHEK2, and several other genes are associated with an increased risk of breast and ovarian cancer. The National Comprehensive Cancer Network guidelines recommend germline testing for BRCA1/2 mutations in patients with breast, ovarian, pancreatic, and prostate cancers who were diagnosed under a certain age. The NCCN also recommends germline testing for individuals who have a first- or second-degree relative with these cancers or family history of these diseases.
The researchers aimed to assess the impact of a typical public health outreach method, mailed brochures or other print materials, against a more personalized option for genetic testing and counseling. The three-arm trial enrolled 668 patients from cancer registries in New Mexico, Colorado, and New Jersey. At enrollment, patients either received phone-based education, mailed print materials, or no intervention. The researchers then surveyed the patients at one month and six months to see if they had received cancer genetic risk testing. Both interventions were available in both English and Spanish, based on patients' needs.
Patients who got print materials received a study-specific educational brochure in the mail that was targeted to their genetic risk status. The brochure included information about cancer genetic risk assessment guidelines and benefits, the risk of hereditary breast and ovarian cancers, information about insurance reimbursement and other resources, and state-specific information about where to access testing.
Patients in the phone intervention arm received the educational brochure in the mail and had a 30-minute to 45-minute phone call with a health coach trained in motivational interviewing. During the phone call, the health coach went over similar topics covered in the brochures, such as the benefits of cancer genetic risk assessment, tailored information about each patient's genetic risk, and behaviors that address cancer risk. The coach also helped patients identify clinics where they could receive testing.
After this initial call, patients received a tailored letter summarizing their action plan and a follow-up phone call seven weeks later. With permission from these participants, researchers also sent a letter to their healthcare providers to inform them their patients met the referral criteria for cancer genetic risk assessment.
But the availability of the printed materials reinforcing the important information about cancer risk testing was also key. "We used print [in this study] because we know that many underserved populations, including racial and ethnic minorities, often prefer print information over computer information," Kinney said.
In designing this study, Kinney took lessons from a previous study she worked on that aimed to increase colonoscopies among relatives of patients with colorectal cancer who had a strong family history of the disease. "We added [genetic testing] navigation onto the phone-based intervention [in this study] because we felt from the prior study, we could have done better if we did more active navigation to colonoscopy," Kinney said. "We trained our health coaches to navigate patients to genetic counseling or testing, and our findings were more impactful and more pronounced partly because of that decision."
The phone-based intervention led to the greatest number of patients to take action, with 32 patients (18.7 percent) receiving genetic testing or counseling; six patients (3 percent) of those who got printed materials only went on to get genetic testing or counseling; and five patients (2.5 percent) in the control group took such action.
Of the 43 patients who had cancer genetic risk assessment across all three study arms, 65 percent had both counseling and testing, 24 percent had testing only, and 12 percent had counseling only. The researchers also surveyed patients about barriers to receiving genetic testing and counseling. One-third of patients cited lack of provider referral and 26.5 percent cited cost concerns as barriers to genetic counseling. Meanwhile, 41.2 percent cited cost and 14 percent cited anticipated challenges with coping with results as barriers to genetic testing.
The phone-based intervention also saw success among several underserved groups, specifically Hispanic patients and rural patients, Kinney said. The researchers made extra efforts to have adequate representation from these two groups. However, the study did not achieve adequate representation of Black patients, Kinney acknowledged, with only 5.9 percent of participants in the study identifying as non-Hispanic Black.
But since researchers oversampled Hispanic and rural patients from state cancer registries during the initial enrollment period, about a quarter of participants in the study identified as Hispanic and 17.5 percent lived in rural areas.
"Many rural dwellers work long hours; a lot of them work on farms and are not at home most of the day. That was a bit challenging," Kinney said. Compounding these challenges, some Hispanic patients were concerned about participating in research because of their immigrant documentation status. Both Hispanics and rural dwellers tend to be economically depressed and have more demands on their time. All of this doesn't make it easy for them to participate in research, Kinney recognized.
Studies like this, Kinney emphasized, are important when trying to convince health systems to implement evidence-based health communication strategies.
There are several ongoing programs focused on increasing awareness of genetic cancer risk and rates of cancer risk assessment among racial and ethnic minorities. One program from UC Davis Comprehensive Cancer Center aims to educate Hispanic and Latina women in California about their genetic risk for breast cancer and the importance of genomic profiling for family members. A 2020 effort from Pfizer and Invitae aimed to expand the availability of BRCA1/2 testing among breast cancer patients in six countries in the Middle East and Asia-Pacific regions. A Canadian population screening project aimed to improve identification of germline BRCA1/2 mutation carriers to provide enhanced cancer screening.
"Data like this can provide evidence that these strategies can work, then it can guide policymakers to change … guidelines or increase available resources for these programs," Kinney said.
After this study, Kinney is turning her attention to chatbots, which are increasingly being used in health systems to address gaps in access to genetic counseling. Kinney is planning two projects, in which she will explore the impact of artificial intelligence-enabled chatbots on genetic testing rates among Black patients with cancer.